Charlotte J Sumner

ORCID

Publication Activity (10 Years)

Years Active: 2015-2024
Publications (10 Years): 20

Top Venues

Science translational medicine

Nature communications

Acta neuropathologica communications

The Journal of biological chemistry

Johns Hopkins University

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Johns Hopkins University Jun 01 2006

United States

Professor :: Neurology and Neuroscience

Publications

Jeremy M Sullivan, Anna M Bagnell, Jonathan Alevy, Elvia Mena Avila, Ljubica Mihaljević, Pamela C Saavedra-Rivera, Lingling Kong, Jennifer S Huh, Brett A McCray, William H Aisenberg, Aamir R Zuberi, Laurent Bogdanik, Cathleen M Lutz, Zhaozhu Qiu, Katharina A Quinlan, Peter C Searson, Charlotte J Sumner
Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice. Science translational medicine 16 (748) (2024)
Jeremy M Sullivan, Anna M Bagnell, Jonathan Alevy, Elvia Mena Avila, Ljubica Mihaljević, Pamela C Saavedra-Rivera, Lingling Kong, Jennifer S Huh, Brett A McCray, William H Aisenberg, Aamir R Zuberi, Laurent Bogdanik, Cathleen M Lutz, Zhaozhu Qiu, Katharina A Quinlan, Peter C Searson, Charlotte J Sumner
Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice. Science translational medicine 16 (748) (2024)
Jeremy M Sullivan, Anna M Bagnell, Jonathan Alevy, Elvia Mena Avila, Ljubica Mihaljević, Pamela C Saavedra-Rivera, Lingling Kong, Jennifer S Huh, Brett A McCray, William H Aisenberg, Aamir R Zuberi, Laurent Bogdanik, Cathleen M Lutz, Zhaozhu Qiu, Katharina A Quinlan, Peter C Searson, Charlotte J Sumner
Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice. Science translational medicine 16 (748) (2024)
Jeremy M Sullivan, Anna M Bagnell, Jonathan Alevy, Elvia Mena Avila, Ljubica Mihaljević, Pamela C Saavedra-Rivera, Lingling Kong, Jennifer S Huh, Brett A McCray, William H Aisenberg, Aamir R Zuberi, Laurent Bogdanik, Cathleen M Lutz, Zhaozhu Qiu, Katharina A Quinlan, Peter C Searson, Charlotte J Sumner
Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice. Science translational medicine 16 (748) (2024)
Jeremy M Sullivan, Anna M Bagnell, Jonathan Alevy, Elvia Mena Avila, Ljubica Mihaljević, Pamela C Saavedra-Rivera, Lingling Kong, Jennifer S Huh, Brett A McCray, William H Aisenberg, Aamir R Zuberi, Laurent Bogdanik, Cathleen M Lutz, Zhaozhu Qiu, Katharina A Quinlan, Peter C Searson, Charlotte J Sumner
Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice. Science translational medicine 16 (748) (2024)
Jeremy M Sullivan, Anna M Bagnell, Jonathan Alevy, Elvia Mena Avila, Ljubica Mihaljević, Pamela C Saavedra-Rivera, Lingling Kong, Jennifer S Huh, Brett A McCray, William H Aisenberg, Aamir R Zuberi, Laurent Bogdanik, Cathleen M Lutz, Zhaozhu Qiu, Katharina A Quinlan, Peter C Searson, Charlotte J Sumner
Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice. Science translational medicine 16 (748) (2024)
Jeremy M Sullivan, Anna M Bagnell, Jonathan Alevy, Elvia Mena Avila, Ljubica Mihaljević, Pamela C Saavedra-Rivera, Lingling Kong, Jennifer S Huh, Brett A McCray, William H Aisenberg, Aamir R Zuberi, Laurent Bogdanik, Cathleen M Lutz, Zhaozhu Qiu, Katharina A Quinlan, Peter C Searson, Charlotte J Sumner
Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice. Science translational medicine 16 (748) (2024)
Benedikt Goretzki, Christoph Wiedemann, Brett A McCray, Stefan L Schäfer, Jasmin Jansen, Frederike Tebbe, Sarah-Ana Mitrovic, Julia Nöth, Ainara Claveras Cabezudo, Jack K Donohue, Cy Michael Jeffries, Wieland Steinchen, Florian Stengel, Charlotte J Sumner, Gerhard Hummer, Ute A Hellmich
Crosstalk between regulatory elements in disordered TRPV4 N-terminus modulates lipid-dependent channel activity. Nature communications 14 (1) (2023)
Do Hoon Kwon, Feng Zhang, Brett A McCray, Shasha Feng, Meha Kumar, Jeremy M Sullivan, Wonpil Im, Charlotte J Sumner, Seok-Yong Lee
TRPV4-Rho GTPase complex structures reveal mechanisms of gating and disease. Nature communications 14 (1) (2023)
Lingling Kong, Cera W Hassinan, Florian Gerstner, Jannik M Buettner, Jeffrey B Petigrow, David O Valdivia, Michelle H Chan-Cortés, Amy Mistri, Annie Cao, Scott Alan McGaugh, Madeline Denton, Stephen Brown, Joshua Ross, Markus H Schwab, Christian M Simon, Charlotte J Sumner
Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation. Acta neuropathologica communications 11 (1) (2023)
Lingling Kong, Cera W Hassinan, Florian Gerstner, Jannik M Buettner, Jeffrey B Petigrow, David O Valdivia, Michelle H Chan-Cortés, Amy Mistri, Annie Cao, Scott Alan McGaugh, Madeline Denton, Stephen Brown, Joshua Ross, Markus H Schwab, Christian M Simon, Charlotte J Sumner
Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation. Acta neuropathologica communications 11 (1) (2023)
Lingling Kong, Cera W Hassinan, Florian Gerstner, Jannik M Buettner, Jeffrey B Petigrow, David O Valdivia, Michelle H Chan-Cortés, Amy Mistri, Annie Cao, Scott Alan McGaugh, Madeline Denton, Stephen Brown, Joshua Ross, Markus H Schwab, Christian M Simon, Charlotte J Sumner
Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation. Acta neuropathologica communications 11 (1) (2023)
Charlotte J Sumner, Thomas O Crawford
Early treatment is a lifeline for infants with SMA. Nature medicine 28 (7) (2022)
Christopher Grunseich, Nathan Sarkar, Joyce Lu, Mallory Owen, Alice Schindler, Peter A Calabresi, Charlotte J Sumner, Ricardo H Roda, Vinay Chaudhry, Thomas E Lloyd, Thomas O Crawford, Sub H Subramony, Shin J Oh, Perry Richardson, Kurenai Tanji, Justin Y Kwan, Kenneth H Fischbeck, Ami Mankodi
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases. Journal of neurology, neurosurgery, and psychiatry 92 (11) (2021)
Brett A McCray, Erika Diehl, Jeremy M Sullivan, William H Aisenberg, Nicholas W Zaccor, Alexander R Lau, Dominick J Rich, Benedikt Goretzki, Ute A Hellmich, Thomas E Lloyd, Charlotte J Sumner
Neuropathy-causing TRPV4 mutations disrupt TRPV4-RhoA interactions and impair neurite extension. Nature communications 12 (1) (2021)
Kelly A Rich, Christopher G Wier, Jessica Russo, Lingling Kong, Patrick L Heilman, Anthony Reynolds, Amy Knapp, Megan G Pino, Elizabeth Keckley, Lori Mattox, Raphael A Malbrue, Charlotte J Sumner, Catalin Buhimschi, Stephen J Kolb
Premature delivery in the domestic sow in response to in utero delivery of AAV9 to fetal piglets. Gene therapy (2021)
Lingling Kong, David O Valdivia, Christian M Simon, Cera W Hassinan, Nicolas Delestrée, Daniel M Ramos, Jae Hong Park, Celeste Michelle Pilato, Xixi Xu, Melissa Crowder, Chloe C Grzyb, Zachary A King, Marco Petrillo, Kathryn J Swoboda, Crystal Davis, Cathleen M Lutz, Alexander H Stephan, Xin Zhao, Marla Weetall, Nikolai A Naryshkin, Thomas O Crawford, George Z Mentis, Charlotte J Sumner
Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA. Science translational medicine 13 (578) (2021)
Noam Auslander, Daniel M Ramos, Ivette Zelaya, Hiren Karathia, Thomas O Crawford, Alejandro A Schäffer, Charlotte J Sumner, Eytan Ruppin
The GENDULF algorithm: mining transcriptomics to uncover modifier genes for monogenic diseases. Molecular systems biology 16 (12) (2021)
Brian M Woolums, Brett A McCray, Hyun Sung, Masashi Tabuchi, Jeremy M Sullivan, Kendra Takle Ruppell, Yunpeng Yang, Catherine Mamah, William H Aisenberg, Pamela C Saavedra-Rivera, Bryan S Larin, Alexander R Lau, Douglas N Robinson, Yang Xiang, Mark N Wu, Charlotte J Sumner, Thomas E Lloyd
TRPV4 disrupts mitochondrial transport and causes axonal degeneration via a CaMKII-dependent elevation of intracellular Ca2. Nature communications 11 (1) (2020)
Nicholas W Zaccor, Charlotte J Sumner, Solomon H Snyder
The nonselective cation channel TRPV4 inhibits angiotensin II receptors. The Journal of biological chemistry 295 (29) (2020)
Nimrod Miller, Zhihua Feng, Brittany M Edens, Ben Yang, Han Shi, Christie C Sze, Benjamin Taige Hong, Susan C Su, Jorge A Cantu, Jacek Topczewski, Thomas O Crawford, Chien-Ping Ko, Charlotte J Sumner, Long Ma, Yongchao C Ma
Non-aggregating tau phosphorylation by cyclin-dependent kinase 5 contributes to motor neuron degeneration in spinal muscular atrophy. The Journal of neuroscience : the official journal of the Society for Neuroscience 35 (15) (2015)

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Publication Activity (10 Years)

Top Topics

Top Venues

Charlotte J Sumner